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MON-270 Diagnostic Exome Sequencing in Children with Permanent Congenital Hypothyroidism
Introduction: Congenital hypothyroidism can be caused by aplasia or hypoplasia of the thyroid gland, ectopic thyroid, or dyshormonogenesis. Thyroid function test, thyroid ultrasonography, and thyroid scintigraphy may be helpful in diagnosis. Molecular genetic approach can be used to identify the gen...
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| Publicat a: | J Endocr Soc |
|---|---|
| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Endocrine Society
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6551082/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-MON-270 |
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